| Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
|---|---|---|---|---|---|
| 12 | g.51706668C>T | CA6571282 | SCN8A | c.1588C>T (p.Arg530Trp) n.1716C>T c.1138C>T (p.Arg380Trp) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 COSMIC COSMIC |
| 12 | g.51706668C>A | CA480029160 | SCN8A | c.1588C>A (p.Arg530=) n.1716C>A c.1138C>A (p.Arg380=) | dbSNP gnomAD v3 gnomAD v4 |